From: Transcriptome level analysis in Rett syndrome using human samples from different tissues
Study | Sample number | Age (Years) | Mutation gene | Amino Acid change | Effected Domain |
---|---|---|---|---|---|
Post-Mortem Brain Studies | |||||
 Colantuoni et al. 2001 [23] | RTT1 | 2 | c.502 C > T | p.R168X | ID |
RTT2 | 10 | c.808 C > T | p.R270X | TRD-NLS | |
RTT3 | 25 | c.880 C > T | p.R294X | TRD | |
RTT4 | 29 | No coding region mutation detected | NA | Â | |
RTT5 | 19 | c.880 C > T | p.R294X | TRD | |
RTT6 | 19 | No coding region mutation detected | NA | Â | |
 Gibson et al. 2010 [25] | RTT1 | 11 | c.763 C > T | p.R255X | TRD-NLS |
RTT3 | 12 | c.808 C > T | p.R270X | TRD-NLS | |
RTT4 | 18 | c.473 C > T | p.T158 M | MBD | |
RTT5 | 11 | c.316C > T | p.R106W | MBD | |
RTT6 | 21 | c.808C > T | p.R270X | TRD-NLS | |
RTT9 | 4 | c.750insC | p.P251fs | TRD | |
 Lin et al. 2016 [26] | RTT1 | 10 | c.378-2A > G | splice site | Intronic region |
RTT2 | 9 | c.763 C > T | p.R255X | TRD-NLS | |
RTT3 | 7 | c.451G > T | p.D151Y | CTD | |
 Deng et al. 2007 [24] | Data not available | ||||
Blood Studies | |||||
 Colak et al. 2011 [14] | Data not available | ||||
 Pecorelli et al. 2013 [34] | RTT1 | 7 | Early truncating mutation | NA |  |
RTT2 | 10 | c.403A > G | p.K135E | MBD | |
RTT3 | 9 | c.403A > G | p.K135E | MBD | |
RTT4 | 9 | c.455C > G | p.P152R | MBD | |
RTT5 | 12 | c.473C > T | p.T158 M | MBD | |
RTT6 | 19 | c.763C > T | p.R255X | TRD-NLS | |
RTT7 | 22 | c.806_807delG | p.G268Â fs | TRD-NLS | |
RTT8 | 7 | c.808C > T | p.R270X | TRD-NLS | |
RTT9 | 7 | c.808C > T | p.R270X | TRD-NLS | |
RTT10 | 12 | C880C > T | p.R294X | TRD | |
RTT11 | 6 | c.880C > T | p.R294X | TRD | |
RTT12 | 11 | c.916C > T | p.R306C | TDR | |
Induced pluripotent stem cell studies | |||||
 Tanaka et al.2014 [47] | RTT1 | 5 | c.473 C > T | T158 M | MBD |
RTT2 | 5 | c.703C > T | Q244X | TRD | |
RTT3 | 25 | c.705delG | E235fs | TRD/CTD | |
RTT4 | 8 | c.916C > T | R306C | TDR | |
RTT5 | 5 | c. 1461A > G | X487W | CTD |